Insulin resistance (including lipodystrophy)
Gene: PIK3R1
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reported in SHORT syndrome 269880, this phenotype does not include Acanthosis nigricansCreated: 12 Aug 2016, 8:18 a.m.
Comment on mode of pathogenicity: LOF probably is responsible for this phenotypeCreated: 12 Aug 2016, 8:14 a.m.
Comment on phenotypes: Also associated with Agammaglobulinemia 7, autosomal recessive 615214 and Immunodeficiency 36 616005Created: 12 Aug 2016, 6:33 a.m.
Around 50% of patients have the p.Arg649Trp mutation. Nearly all others are located in the C terminal SH2 domain, unlike those mutations causing immunodeficiency, suggesting that the pathogenic mechanism is not simple loss of functionCreated: 12 Oct 2015, 8:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Other
Promoted to version 1 12/08/2016
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for PIK3R1 was changed to Other - please provide details in the comments
This gene has been classified as Green List (High Evidence).
PIK3R1 was added to Insulin resistance (including lipodystrophy)panel. Sources: UKGTN
Phenotypes for PIK3R1 were set to SHORT syndrome 269880
Publications for PIK3R1 were set to 23810382; 23810379; 23810378
PIK3R1 was added to Insulin resistance (including lipodystrophy) panel. Sources: Literature